Publications with Fulltext
Permanent URI for this collectionhttps://hdl.handle.net/20.500.14288/6
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Publication Open Access Clinical presentation in a series of eight children with abdominal tuberculosis: experience of a single-center in Turkey(Kowsar Publishing Corporation, 2017) Usta, Merve; Urgancı, Nafiye; Dalgıç, Nazan; Kurtaraner, Tuğce; Karadağ, Çetin Ali; N/A; Kızılkan, Nuray Uslu; Faculty Member; School of MedicineBackground: Abdominal tuberculosis, the sixth commonest extrapulmanory tuberculosis, is easily misdiagnosed due to nonspecific gastrointestinal symptoms. The diagnosis is highly dependent on clinician's suspicion of the disease; therefore to increase awareness we retrospectively reviewed clinical features of eight children in a four year-period. Methods: The medical records of children with abdominal TB were retrospectively reviewed. The diagnosis of abdominal TB was defined as Mycobacterium tuberculosis infection of gastrointestinal tract along with peritoneal or solid organ involvement. Results: There were six girls and two boys with a mean age of 13.6 +/- 2.8 years (range, 7 - 16 years). Abdominal pain and weight loss were common complaints in all patients (100%) at presentation; fever was present in four (50%) patients and abdominal distension in two (25%) patients. Mean duration of symptoms before diagnosis was 2.5 +/- 1 months. Laparotomy performed in six patients, and the peritoneum was the most common infection site (in 5 patients). Chest X-rays of 7 patients indicated lung involvement. The most common abdominal computed tomography and ultrasonography finding was ascites. Bowel wall thickening was recorded in 2 patients and ileal thickening in 1 patient. Inguinal lymphadenopathy and multiple mesenteric lymphadenitis were present as single cases. Conclusions: The abdominal tuberculosis should be suspected in children with ongoing abdominal pain, fever, and abdominal distension, laparoscopy or laparotomy could be useful in the differential diagnosis and utilizing imaging techniques, invasive methods with clinical suspicion may prevent delay of the diagnosis.Publication Open Access Diffusion MRI features of acute encephalopathy due to stopping steroid medication abruptly in congentila adrenal hyperplasia(Medknow Publications, 2015) Serter, Aslı; Alkan, Alpay; N/A; Demirkol, Demet; Faculty Member; School of MedicineCongenital adrenal hyperplasia (CAH) is characterized by adrenal steroid biosynthesis defect. Steroid replacement therapy should be performed regularly in these patients. Adrenal crisis may be present in acute stress due to increased cortisol requirements or in steroid deficiency due to stopping steroid medication abruptly. In patients with acute adrenal insufficiency, severe hypotension or hypovolemic shock occurs typically. Acute encephalopathy can be seen due to hypoxia, hypervolemia, or hypoglycemia. Diffusion restriction can be seen in cortical-subcortical regions of frontal and parieto-occipital lobes and in splenium of corpus callosum. In CAH patients with neurologic symptoms, Diffusion weighted images (DWI) is very important in the diagnosis and follow-up of acute encephalopathy.Publication Open Access Cytokine responses to symbiotic and lactoferrin combination in very low birth weight neonates: a randomized control trial(Sociedad Argentina de Pediatria (SAP), 2020) Pehlevan, Özge Serçe; Benzer, Derya; Çetin, Esin Aktaş; Karatekin, Güner; Ovalı, Fahri; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Introduction: probiotics and prebiotics, which are multifunctional agents, have potential benefits in chronic mucosal inflammation, including the prevention of necrotizing enterocolitis. However, the mechanisms and the results of these immunomodulatory effects are not clear. This study aimed to investigate the cytokine response to the combination of Lactobacillus and Bifidobacterium together with fructo- and galacto-oligosaccharides (symbiotic) and lactoferrin in very low birth weight neonates. Population and methods: infants <= 32 GWs and <= 1,500 g were randomly assigned to receive a symbiotic combination or 1 ml distilled water as placebo starting with the first feed until discharge. Blood samples were obtained at postnatal 0 +/- 2, 14 +/- 2, and 28 +/- 2 days, and the serum levels of interferon-gamma, interleukin (IL)-5, IL-10, and IL-17A were measured. Results: in the study group (n = 25), the IL-10 levels decreased throughout the study period (p = 0.011)but did not change in the control group. The IL-5 levels remained steady in the first 14 days and decreased significantly thereafter (p= 0.042) in the study group, whereas they increased in the first 14 days (p = 0.019), and then decreased in 28 days (p = 0.011) in the control group (n = 25). The levels of the other cytokines did not change throughout the study period. Conclusion: the combined use of probiotics with oligosaccharides and lactoferrin was associated with a decrease in IL-10 levels, but no change was observed in the other cytokines. / Introducción, los probióticos y prebióticos presentanbeneficiospotencialesenlainflamación crónica de las mucosas, incluida la prevención de la enterocolitis necrosante. No obstante, los mecanismos y resultados de estos efectos inmunomoduladores son confusos. El objetivo fue investigar la respuesta de las citocinas a Lactobacillus y Bifidobacterium asociados con fructo- y galactooligosacáridos (simbióticos) y lactoferrina en recién nacidos de muy bajo peso al nacer. Población y métodos. Se asignó aleatoriamente a lactantes con ≤32 semanas de gestación y ≤1500 g de peso para recibir simbióticos o 1 ml de agua destilada como placebo desde la primera alimentación hasta el alta. Se obtuvieron muestras de sangre los días posnatales 0 ± 2, 14 ± 2 y 28 ± 2, y se midieron interferón-γ, interleucina (IL)-5, IL-10 e IL-17A. Resultados, en el grupo del estudio (n = 25), la concentración de IL-10 disminuyó a lo largo del estudio (p=0,011), pero no cambió en el grupo de referencia. La concentración de IL-5 se mantuvo constante los primeros 14 días y luego disminuyó significativamente (p = 0,042) en el grupo del estudio, mientras que aumentó en los primeros 14 días (p = 0,019) y luego disminuyó en 28 días (p = 0,011) en el grupo de referencia (n = 25).La concentración de otras citocinas no cambió a lo largo del estudio. Conclusión, el uso combinado de probióticos con oligosacáridos y lactoferrina estuvo asociado con una disminución en la concentración de IL-10, pero no se observó un cambio en las otras citocinas. Palabras clave: citocinas, lactoferrina, enterocolitis necrosante, prebióticos, probióticos.Publication Open Access A single-center report of COVID-19 disease course and management in liver transplanted pediatric patients(Wiley, 2021) Yüksel, Muhammed; Aktürk, Hacer; Mızıkoğlu, Özlem; Toroslu, Ertuğ; Arıkan, Çiğdem; Researcher; Faculty Member; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University Hospital; N/A; N/A; N/A; N/A; 240198Background: in 2019, SARS-CoV-2 causing COVID-19 emerged. Severe COVID-19 symptoms may evolve by virtue of hyperactivation of the immune system. Equally, immunocompromised patients may be at increased risk to develop COVID-19. However, treatment guidelines for children following liver transplantation are elusive. Methods: as a liver transplantation center, we diagnosed and followed up 10 children (male/female: 8/2) with a median age of 8.5 years (IQR: 5.2-11.0), with COVID-19 post-liver transplant between March 2019 and December 2020. COVID-19 diagnosis was based on PCR test and or florid X-ray findings compatible with COVID-19 in the absence of other cause. We retrospectively collected clinical and laboratory data from electronic patient records following written consent from patients/parents. Results: nine patients were diagnosed as definitive (PCR positive) with one patient being diagnosed as probable COVID-19. Seven patients recovered without any support whereas three were admitted for non-invasive oxygenation. Lymphopenia and/or high levels of serum IL-6 were detected in four patients. Six patients mounted anti-SARS-CoV-2 antibodies at median 30 days (IQR: 26.5-119.0) following COVID-19 diagnosis. Antibiotic therapy, favipiravir, anakinra, and IVIG were used as treatment in 4,1,1 and 2 patients, respectively. Furthermore, we kept the tacrolimus with or without everolimus but stopped MMF in 2 patients. Importantly, liver allograft function was retained in all patients. Conclusions: we found that being immunocompromised did not affect disease severity nor survival. Stopping MMF yet continuing with tacrolimus was an apt treatment modality in these patients.Publication Open Access Endonasal choanal atresia repair; evaluating the surgical results of 58 cases(Turkish National Pediatric Society, 2021) Bajin, Münir Demir; Önay, Övsen; Günaydin, Rıza Önder; Yücel, Ömer Taşkın; Akyol, Umut; Aydın, Canset; Ünal, Ömer Faruk; Other; School of Medicine; 199800Background: choanal atresia is the most common congenital nasal anomaly, with an incidence of 1:5000-1:8000 live births. Atresia can be seen as membraneous, bony or mixed type. When it is bilateral, it is accepted life-threatening, therefore bilateral atresia necessitates immediate intervention. Diagnosis is confirmed by endoscopic examination and computed tomography. The absolute treatment is surgical, and different approaches have been proposed. Methods: herein, we describe our 15-year experience in the treatment of 58 patients of congenital choanal atresia with transnasal endoscopic approach, and we compare the efficacy of placement of an intranasal stent and applying mitomycin while endoscopic microsurgical repair. Results: the study included 41 female patients (71%) and 17 male patients (29%) with congenital CA. The mean age was 3 years ranging from 10 days to 16 years. The atretic plate was bilateral in 24 patients (41%) and unilateral in 34 (59%). The most common atresia type was the mixed type with 29 patients (50%). A total of 17 patients (29%) required postoperative revision(s). Postoperative revisions were more frequent among patients with bilateral CA (50%), and with mixed CA (31%). Stenting was used additionally by surgical correction for 10 patients. After stenting, fibrosis and restenosis was seen in 7 patients (79%). Mitomycin C was applied peroperatively in 8 patients. Restenosis after mitomycin application was seen in 4 patients (50%). Conclusions: by our experience, endoscopic microsurgical repair of atresia proved to be an effective and safe procedure, results compared with adjuvant treatment modalities like stent or mitomycin C use, was not better. Restenosis was the major problem seen after surgical correction.Publication Open Access Behavioral functioning of school-aged children with non-syndromic craniosynostosis(Springer, 2020) Zeytinoğlu Saydam, Senem; Özek, M. Memet; Crerand, Canice; Department of Business Administration; Marcus, Justin; Faculty Member; Department of Business Administration; College of Administrative Sciences and Economics; 124653Purpose: this study investigated the risk for children with non-syndromic craniosynostosis to develop behavioral problems during school age determined by the type of craniosynostisis, age at first surgery, and number of surgeries. Method: final sample consisted of 43 children aged between 6 years and 8 months and 17 years and 1 month (M = 10 years and 5 months). Behavioral problems were assessed with Child Behavioral Checklist (CBCL). Results: our sample had higher scores on the CBCL than the general population; specific elevations were observed including somatic complaints, aggressive behavior, social problems, attention problems, and thought problems and rule-breaking behavior. Behavioral functioning varied by number of surgical procedures, type of craniosynostosis, and age at first surgery. Conclusion: for school-aged NSC children's behavioral functioning, diagnosis specific patterns especially impacted by the first age of the surgery and number of surgeries.Publication Open Access Over restrictive elimination of foods in children with food allergy(Turkish National Pediatric Society, 2021) Melek, Hacer Efnan; Nacaroğlu, Hikmet Tekin; Dut, Raziye; Soyer, Özge; Şahiner, Ümit M.; Yılmaz, Ebru Arık; Akkaya, A. Deniz; Büyüktiryaki, Ayşe Betül; Saçkesen, Cansın; Kızılkan, Nuray Uslu; Undergraduate Student; Faculty Member; Faculty Member; School of Medicine; Koç University Hospital; N/A; N/A; 182537; 221274Background: previous studies demonstrated critical deficits in diagnosis and management of childhood food allergy (FA), and recent developments in FA research support adopting a proactive approach in FA management. Our objective was to describe FA knowledge and management patterns of pediatricians. Method: we applied a 24-item survey to 170 general pediatricians, pediatric allergists and pediatric gastroenterologists practicing in Turkey. Results: some IgE-mediated symptoms of FA such as cough, urticaria, wheezing and anaphylaxis were falsely recognized as symptoms of non-IgE-mediated FA by 30%, 29%, 25% and 19% of the participants, respectively. By contrast, 50% of the participants falsely recognized bloody stool, a finding of IgE-mediated FA. Most frequently and least frequently used diagnostic tools were specific IgE (30.5%) and oral food challenge test (1.7%), respectively. Maternal diet restrictions and infant diet restrictions were advised by 82% and 82%, respectively. Percentages of physicians eliminating only 1 food were 21%, 19%; 2 foods were 15%, 11%; 3 foods were 7%, 8%; 4-5 foods were 8%, 11%; 5 to 10 foods were 21%, 26%; and >10 foods were 28%, 25% from the maternal and infant diet, respectively. Cow's milk, cheese, butter, yoghurt, baked milk products and hen's egg were the most commonly restricted items. Conclusion: overall, FA knowledge of pediatricians was fair. Pediatricians utilize an overly restrictive approach when advising diet eliminations in FA. Recent developments favor a more proactive approach to induce immune tolerance and need to be encouraged in pediatric clinical practice. Future educational efforts should focus on emphasizing the deleterious effects of injudicious and extensive eliminations.Publication Open Access Fucosidosis: clinical and molecular findings of Turkish patients(Turkish National Pediatric Society, 2022) Şanlı, Merve Emecen; Uysal, Serap; Other; School of MedicineBackground: Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L-fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings and summarized the clinical and molecular features of Turkish patients reported in the literature and present. Case: the patient was born to consangineous parents at the 28th week of gestation. He had developmental delay that was attributed to prematurity. At he age of 2.5 years, brain magnetic resonans imaging revealed hyperintensities of symmetrical periventricular, subcortical, centrum semiovale and corona radiata regions on T2 and FLAIR weighted images. He developed seizures and showed developmental regression at he age of 3,5 years. Beside, coarse facial features and hepatomegaly were detected on phsyical examination. Lysosomal enzyme analysis revelaed alfa fucosidase deficiency and molecular genetic analysis identified a novel homozygous pathogenic p. Lys431 fs variant in FUCA1 gene. Conclusions: in Turkish patients no distinguishable clinical and radiologic finding could be established. Molecular analysis was performed in few patients. Increasing of molecular and biochemical facilities might enable to make diagnosis and increase the prevalence of the disease in countries with high rate of consanguineous marriages. Moreover, it will provide genetic counseling, and enlighten the therapeutic effects of hematopoietic stem cell transplantation.Publication Open Access A rare case of juvenile amyotrophic lateral sclerosis(Turkish National Pediatric Society, 2021) Bodur, Muhittin; Toker, Rabia Tütüncü; Okan, Mehmet Sait; Başak, Ayşe Nazlı; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; 1512Background: amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial. Case: here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C>T) variation was identified in the fused in sarcoma (FUS) gene. Conclusion: the p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.Publication Open Access Different approaches among physicians to treat pediatric stone disease: a survey-based study(Sociedad Argentina de Pediatria (SAP), 2021) Önal, Bülent; Kırlı, Elif A.; Canpolat, Nur; Gürbüz, Ahmet; Özman, Oktay; Sever, Lale; Çalışkan, Salim; Taşdemir, Mehmet; Bilge, İlmay; Doctor; Faculty Member; School of Medicine; Koç University Hospital; N/A; 198907Introduction: pediatricians, surgeons and subspecialties as pediatric urology and nephrology are involved in the diagnosis and treatment of pediatric renal stone disease (RSD). The aim of this study was to determine diagnostic and treatment approaches, of different disciplines, and to assess differences in their routine diagnostic and treatment protocols. Population and methods: a questionnaire was designed and administered to the participants of the RSD sessions in national congresses of all disciplines in 2017 to evaluate the diagnostic and treatment routines of specialties (surgeons and pediatricians) and subspecialties (pediatric nephrologists and pediatric urologists) for RSD. Results: a total, of 324 questionnaires were analyzed, from 88 pediatricians (27 %), 121 urologists (37 %), 23 pediatric surgeons (7 %), 54 pediatric nephrologists (17 %), and 38 pediatric urologists (12 %). Both groups agreed on the necessity of metabolic evaluation. For distal ureter stones that were >= 6 mm; surgeons preferred ureteroscopy (URS), pediatricians preferred shock wave lithotripsy (SWL) (p < 0.001) and subspecialties preferred URS for the treatment (p = 0.636). For lower calix stones less than 1 cm surgeons and subspecialists preferred SWL, while pediatricians preferred hydration (p < 0.001, p = 0.371). For the stone between 1.1 and 2 cm, surgeons preferred intrarenal surgery (RIRS) and SWL, pediatricians preferred SWL (p = 0.001). For larger stones, surgeons and subspecialists preferred percutaneous nephrolithotomy (PCNL), and pediatricians preferred SWL (p = 0.458 p = 0.001). Pediatric urologist chose low-dose computerized tomography as a diagnostic radiologic evaluation (p = 0.029). Conclusion: there are differences between the disciplines who take an active role in diagnosis and treatment of RSD.